PMVK Chromosome 1
Phosphomevalonate kinase
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What This Gene Does
This gene encodes a peroxisomal enzyme that is a member of the galactokinase, homoserine kinase, mevalonate kinase, and phosphomevalonate kinase (GHMP) family of ATP-dependent enzymes. The encoded protein catalyzes the conversion of mevalonate 5-phosphate to mevalonate 5-diphosphate, which is the fifth step in the mevalonate pathway of isoprenoid biosynthesis. Mutations in this gene are linked to certain types of porokeratosis including disseminated superficial porokeratosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]
Associated Conditions (5)
Inborn genetic diseases
Porokeratosis 1
Mibelli type
Linear porokeratosis
PMVK-related disorder
Key Variants
RS151267286
Conflicting classifications of pathogenicity
Inborn genetic diseases, Porokeratosis 1, Mibelli type
Health Risk
RS140728783
Likely pathogenic
Linear porokeratosis, Linear porokeratosis
Health Risk
RS2101965598
Likely pathogenic
Linear porokeratosis, Linear porokeratosis
Health Risk
RS745983207
Pathogenic
Porokeratosis 1, Mibelli type, Porokeratosis 1
Health Risk
RS879255607
Pathogenic
Porokeratosis 1, Mibelli type, Porokeratosis 1
Health Risk
RS373000976
Pathogenic/Likely pathogenic
Linear porokeratosis, Porokeratosis 1, Mibelli type
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS151267286 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Porokeratosis 1, Mibelli type |
| RS140728783 | Health Risk | Likely pathogenic | Linear porokeratosis, Linear porokeratosis |
| RS2101965598 | Health Risk | Likely pathogenic | Linear porokeratosis, Linear porokeratosis |
| RS745983207 | Health Risk | Pathogenic | Porokeratosis 1, Mibelli type, Porokeratosis 1 |
| RS879255607 | Health Risk | Pathogenic | Porokeratosis 1, Mibelli type, Porokeratosis 1 |
| RS373000976 | Health Risk | Pathogenic/Likely pathogenic | Linear porokeratosis, Porokeratosis 1, Mibelli type |